Variant report

Variant	rs6996001
Chromosome Location	chr8:131121182-131121183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7014892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
2	chr8:131101800-131121400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:131102000-131123000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr8:131103000-131122400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:131103600-131121400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr8:131103600-131122400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:131103800-131122000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:131103800-131122800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:131104200-131121400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:131104400-131122600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:131104400-131122600	Weak transcription	Pancreas	Pancrea
12	chr8:131104400-131123600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:131104600-131121600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:131105000-131123600	Weak transcription	Fetal Kidney	kidney
15	chr8:131105800-131124000	Weak transcription	Fetal Brain Male	brain
16	chr8:131107400-131122000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:131108600-131122200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:131109800-131123800	Weak transcription	Gastric	stomach
19	chr8:131110000-131122000	Weak transcription	Esophagus	oesophagus
20	chr8:131113000-131142000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:131113400-131128200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:131114400-131138000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:131114600-131137200	Strong transcription	A549	lung
24	chr8:131114800-131130800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:131115200-131137600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr8:131115800-131138200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr8:131116000-131141400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:131116000-131141400	Strong transcription	Primary T cells from cord blood	blood
29	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr8:131116200-131122400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:131116600-131132000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr8:131116600-131133200	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr8:131116800-131124000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:131117400-131130800	Strong transcription	Hela-S3	cervix
35	chr8:131117400-131132800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:131117400-131137200	Strong transcription	NHLF	lung
37	chr8:131117600-131133400	Strong transcription	Fetal Brain Female	brain
38	chr8:131117600-131136800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr8:131118000-131122400	Strong transcription	Fetal Muscle Leg	muscle
40	chr8:131118000-131125200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr8:131118000-131128600	Strong transcription	Fetal Stomach	stomach
42	chr8:131118000-131130800	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:131118000-131133200	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr8:131118000-131136000	Strong transcription	Thymus	Thymus
45	chr8:131118000-131141000	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:131118200-131121600	Strong transcription	HSMMtube	muscle
47	chr8:131118200-131129800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:131118200-131131000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr8:131118400-131122000	Weak transcription	Psoas Muscle	Psoas
50	chr8:131118400-131125000	Strong transcription	HSMM	muscle

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